Open AccessFragile-X-Associated Tremor/Ataxia Syndrome or Alcohol-Induced Cerebellar Degeneration? A Case Report
Author(s) -
Grigioni Giulia,
Saleh Christian,
Jaszczuk Phillip,
Wand Dorothea,
Wilmes Stefanie,
Hund-Georgiadis Margret
Publication year - 2020
Publication title -
case reports in neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.207
H-Index - 15
ISSN - 1662-680X
DOI - 10.1159/000511954
Subject(s) - case series – general neurology
Fragile-X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder that manifests with intention tremor, progressive gait ataxia, and cognitive impairment. The disease is genetically characterized by a premutation of the FMR1 gene on the X-chromosome manifesting with a CGG triplet expansion between 55 and 200. Given the phenotypical variety of this disease, diagnosis is frequently delayed. We present and discuss a male patient whose diagnosis of FXTAS was delayed due to his concomitant alcohol abuse.